Neonatal metabolic myopathies

Seminars in Perinatology

Volumn 23, Issue 2, 1999, Pages 125-151

  Tein, I ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ALPHA GLUCOSIDASE; CYTOCHROME C OXIDASE; PALMITOYL COENZYME A HYDROLASE; PHOSPHORYLASE;

ARTICLE; CLINICAL FEATURE; FATTY ACID OXIDATION; GENETIC LINKAGE; GLYCOGEN STORAGE DISEASE TYPE 3; HUMAN; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL RESPIRATION; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOGLOBINURIA; NEUROMUSCULAR DISEASE; NEWBORN DISEASE; PRIORITY JOURNAL;

EID: 0032900117     PISSN: 01460005     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0146-0005(99)80046-9     Document Type: Article

References (262)

1. Felig P Wahren J Fuel homeostasis in exercise N Engl J Med 293 1975 1078 1084
2. Wahren J Glucose turnover during exercise in man Ann N Y Acad Sci 301 1977 45 55
3. Essen B Glycogen depletion of different types in human skeletal muscle during intermittent and continuous exercise Acta Physiol Scand 103 1978 446 455
4. Gollnick PD Piehl K Saltin B Selective glycogen depletion pattern in human muscle fibres after exercise of varying intensity and at varying pedalling rates J Physiol 241 1974 45 57
5. Essen B Intramuscular substrate utilization during prolonged exercise Ann N Y Acad Sci 301 1977 30 44
6. Lithell H Orlander J Schele R Changes in lipoprotein-lipase activity and lipid stores in human skeletal muscle with prolonged heavy exercise Acta Physiol Scand 107 1979 257 261
7. Pompe JC Over idiopatische hypertrophie van het hart Ned Tijdschr Geneeskd 76 1932 304 311
8. Abarbanel JM Bashan N Potashnik R Adult muscle phosphorylase ‘b’ kinase deficiency Neurology 36 1986 560 562
9. McArdle B Myopathy due to a defect in muscle glycogen breakdown Clin Sci 10 1951 13 35
10. Brown BI Debranching and branching enzyme deficiencies Engel AG Banker B Myology 1986 McGraw-Hill New York, NY 1653 1661
11. Tarui S Okuno G Ikura Y Phosphofructokinase deficiency in skeletal muscle: A new type of glycogenosis Biochem Biophys Res Commun 19 1965 517 523
12. Layzer RB Rowland LP Ranney HM Muscle phosphofructokinase deficiency Arch Neurol 17 1967 512 523
13. (abstr) DiMauro S Dalakas M Miranda AF Phosphoglycerate kinase (PGK) deficiency: A new cause for recurrent myoglobinuria Ann Neurol 10 1981 90
14. Fernandes J Huijing F Branching enzyme-deficiency glycogenosis: Studies in therapy Arch Dis Child 43 1968 347 352
15. Treem WR Stanley CA Finegold DN Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts N Engl J Med 319 1988 1331 1336
16. Stanley CA Sunaryo F Hale DE Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency J Inherited Metab Dis 15 1992 785 789
17. Demaugre F Bonnefont JP Colonna M Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies J Clin Invest 87 1991 859 864
18. Hug G Bove KE Soukup S Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II N Engl J Med 325 1991 1862 1864
19. Ogilvie I Pourfarzam M Jackson S Very long chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria Neurology 44 1994 467 473
20. Hale DE Batshaw ML Coates PM Long-chain acyl coenzyme A dehydrogenase deficiency: An inherited cause of nonketotic hypoglycemia Pediatr Res 19 1985 666 671
21. Amendt BA Greene C Sweetman L Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients J Clin Invest 79 1987 1303 1309
22. Frerman FE Goodman SI Deficiency of electron transfer flavoprotein or electron transfer flavoprotein: Ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts Proc Natl Acad Sci U S A 82 1985 4517 4520
23. Frerman FE Goodman SI Nuclear-encoded defects of the mitochondrial respiratory chain, including glutaric acidemia type II Scriver CR beaudet AL Sly WAS The Metabolic and Molecular Basis of Inherited Disease 7th ed 1995 McGraw-Hill New York, NY 1611 1629
24. Fatty Acid Oxidation: Clinical. Biochemical and Molecular Aspects Hale DE Thorpe C Braat K The L-3-hydroxyacyl-CoA dehydrogenase deficiency Tanaka K Coates PM Progress in Clinical and Biological Research vol 321 1990 Alan R. Liss New York, NY 503 510
25. Jackson S Kler RS Bartlett K Combined enzyme defect of mitochondrial fatty acid oxidation J Clin Invest 90 1992 1219 1225
26. Tein I De Vivo DC Hale DE Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy Ann Neurol 30 1991 415 419
27. Robinson RH MacMillan H Petrova-Benedict R Variable clinical presentation in patients with deficiency of the pyruvate dehydrogenase complex. A review of 30 cases with a defect in the E1 component of the complex J Pediatr 111 1987 525 533
28. Robinson BH Mackay N Petrova-Benedict R Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia J Clin Invest 85 1990 1821 1824
29. Robinson BH Taylor J Sherwood WG Deficiency of dihydrolipoyl dehydrogenase (a component of pyruvate and ketoglutarate dehydrogenase complexes). A cause of congenital chronic lactic acidosis in infancy Pediatr Res 11 1978 1198 1202
30. Robinson BH Taylor J Kahler SG Lactic acidemia, neurological deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydroganase deficiency Eur J Pediatr 136 1981 35 39
31. Saudubray JM Marsac C Charpentier C Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings Acta Paediatr Scand 65 1976 717 724
32. De Vivo DC Haymond MW Leckie MP clinical and biochemical implications of pyruvate carboxylase deficiency J Clin Endocrinol Metab 45 1977 1281 1296
33. Robinson BH Oei J Sherwood WG The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency Am J Hum Genet 36 1984 283 294
34. Moreadith RW Batshaw ML Ohnishi T Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis J Clin Invest 74 1984 685 697
35. Robinson BH Ward J Goodyer P Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lactic acidemia J Clin Invest 77 1986 1422 1427
36. Ogasahara S Engel AG Frens D Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy Proc Natl Acad Sci U S A 86 1989 2379 2382
37. (suppl, abstr) Rotig A Appelkvist E-L Geromel V CoQ 10-responsive mitochondrial encephalomyopathy due to an inborn error of ubiquinone synthesis metabolism Am J Hum Genet 61 1997 A358
38. Birch-Machin MA Shepherd IM Watmaugh NJ Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain Pediatr Res 25 1989 553 559
39. Tritschler H-J Bonilla E Lombes A Differential diagnosis of fatal and benign cytochrome c oxidasedeficient myopathies of infancy: An immunohistochemical approach Neurology 41 1991 300 305
40. DiMauro S Nicholson JF Hays AP Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency Ann Neurol 14 1983 226 234
41. (in press) Sue CM Bruno C Andreu AL Infantile encephalopathy associated with the MELAS A3243 G mutation J Pediatr 1999
42. Holt IJ Harding AE Petty RKH A new mitochondrial disease associated with mitochondrial DNA heteroplasmy Am J Hum Genet 46 1990 428 433
43. Boustany RN Aprille JR Halperin J Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin Ann Neurol 4 1983 462 470
44. Moraes CT Shanske S Tritschler HJ MtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases Am J Hum Genet 48 1991 492 501
45. (suppl) Shield LK Congenital myopathies Aust Paediatr J 1988 77 79
46. Engel AG Hirschhorn R Acid Maltase Deficiency Engel AG Banker BQ Myology ed 2 1994 McGraw-Hill New York, NY 1533 1553
47. Francke U Darras BT Zander NF Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13 Am J Hum Genet 45 1989 276 282
48. Davidson JJ Özçellik T Hamacher C cDNA cloning of a liver isoform of the phosphorylase kinase α subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis Proc Natl Acad Sci U S A 89 1992 2096 2100
49. Jones TA da Cruz e Silva EF Spurr NK Localiza Biochim Biophys Acta 1048 1990 24 29
50. Lebo RV Gorin F Fletterick RJ High-resolution chromosome sorting and DNA spot-blot analysis assign McArdle's syndrome in chromosome 11 Science 225 1984 57 59
51. Newgard CB Nakano K Hwang PK Sequence analysis of the cDNA encoding human liver glycogen phosphorylase reveals tissue-specific codon usage Proc Natl Acad Sci U S A 83 1986 8132 8136
52. Billingsley GD Cox DW Duncan AM Regional localization of loci on chromosome 14 using somatic cell hybrids Cytogenet Cell Genet 66 1994 33 38
53. Newgard CB Littman DR van Genderen C Human brain glycogen phosphorylase; Cloning sequence analysis, chromosomal mapping, tissue expression and comparison with the human liver and muscle isozymes J Biol Chem 263 1988 3850 3857
54. Rao PN Hayworth R Akots G Physical localization of chromosome 20 markers using somatic cell hybrid cell lines and fluorescence in situ hybridization Genomics 14 1992 532 535
55. Yang-Feng TL Zheng Ku Yu J Assignment of the human glycogen debrancher gene to chromosome 1p21 Genomics 13 1992 931 934
56. Vora S Durham S deMartinville B Assignment of the human gene for muscle-type phosphofructokinase (PFKM) to chromosome 1 (region cen-q32) using somatic cell hybrids and monoclonal anti-M antibody Somat Cell Genet 8 1982 95 104
57. Vora S Davidson M Seaman C Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency J Clin Invest 72 1983 1995 2006
58. Van Keuren M Drabkin H Hart I Regional assignment of human liver-type 6-phosphofructokinase to chromosome 21q22.3 by using somatic cell hybrids and a monoclonal anti-L antibody Hum Genet 74 1986 34 40
59. Meera Khan P Westerveld A Grzeschik KH X-linkage of human phosphoglycerate kinase confirmed in man-mouse and man-Chinese hamster somatic cell hybrids Am J Hum Genet 23 1971 614 623
60. DiMauro S Tsujino S Nonlysosomal glycogenoses Engel AG Banker BQ Myology ed 2 1994 McGraw-Hill New York, NY 1554 1576
61. DiMauro S Tonin P Servidei S Metabolic myopathies Rowland LP DiMauro S Handbook of Clinical Neurology ed 62 1992 Elsevier Science Publishers B. V. Amsterdam, The Netherlands 479 526
62. Mehler M DiMauro S Residual acid maltase activity in late-onset acid maltase deficiency Neurology 27 1977 178 184
63. Reuser AJJ Kroos M Willemsen R Clinical diversity in glycogenosis type II J Clin Invest 79 1987 1689 1699
64. Van Der Ploeg AT Bolhuis PA Wolterman RA Prospect for enzyme therapy in glycogensosis type II variants: A study on cultured muscle cells J Neurol 235 1988 392 396
65. Martiniuk F Mehler M Tzall S Extensive genetic heterogeneity in patients with alpha glucosidase deficiency as detected by abnormalities of DNA and mRNA Am J Hum Genet 47 1990 73 78
66. Martiniuk F Mehler M Tzall S Sequence of the cDNA and 5′-flanking region for human acid alphaglucosidase, detection of an intron in the 5′ untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequence DNA Cell Biol 9 1990 85 94
67. Slonim AE Coleman RA McElligot MA Improvement of muscle function in acid maltase deficiency by high-protein therapy Neurology 33 1983 34 38
68. Van der Berg IET Berger R Phosphorylase b kinase deficiency in man: A review J Inher Metab Dis 13 1990 442
69. Carrier H Maire I Vial C Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency Acta Neuropathol 81 1990 84 88
70. Mizuta K Hashimoto E Tsutou A A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase Biochem Biophys Res Commun 119 1984 582 587
71. Servidei S Metlay LA Chodosh J Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency J Pediatr 113 1988 82 85
72. Willems PJ Hendrickx J Van der Auwera BJ Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22 Genomics 9 1991 565 569
73. Harmann B Zander NF Kilimann MW Isoform diversity of phosphorylase kinase α and β subunits generated by alternative RNA splicing J Biol Chem 266 1991 15631 15637
74. DiMauro S Bresolin N Phosphorylase deficiency Engel AG Banker BQ Myology 1986 McGraw Hill New York, NY 1585 1601
75. DiMauro S Hartlage PL Fatal infantile form of muscle phosphorylase deficiency Neurology 28 1978 1124 1129
76. Milstein JM Herron TM Haas JE Fatal infantile muscle phosphorylase deficiency J Child Neurol 4 1989 186 188
77. Schimrigk K Mertens HG Ricker K McArdle-Syndrom (Myopathie bei fehlender Muskelphosphorylase) Klin Wochenschr 45 1967 1 17
78. Chui LA Munsat TL Dominant inheritance of McArdle syndrome Arch Neurol 33 1976 636 641
79. Schmidt B Servidei S Gabbai AA McArdle's disease in two generations: Autosomal recessive transmission with manifesting heterozygote Neurology 37 1987 1558 1561
80. Papadimitriou A Manta P Divari R Two clinical expressions in the same pedigree J Neurol 237 1990 267 270
81. Tsujino S Shanske S DiMauro S Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease) N Engl J Med 329 1993 241 245
82. Takeuchi T Kuriaki H Histochemical detection of phosphorylase in animal tissues J Histochem Cytochem 3 1955 153 160
83. Sato K Imai F Hatayama I Characterization of glycogen phosphorylase isoenzymes present in cultured skeletal muscle from patients with McArdle's disease Biochem Biophys Res Comm 78 1977 663 668
84. DiMauro S Arnold S Miranda AF The mystery of reappearing phosphorylase activity in muscle culture. A fetal isoenzyme Ann Neurol 3 1978 60 66
85. Servidei S Shanske S Zeviani M McArdle disease. Biochemical and molecular genetic studies Ann Neurol 24 1988 774 781
86. McConchie SM Coakley J Edwards RHT Molecular heterogeneity in McArdle's disease Biochim Biophys Acta 1096 1991 26 32
87. Bresolin N Miranda AF Jacobsen MP Phosphorylase isoenzymes of human brain Neurochem Pathol 1 1983 171 178
88. Haller RG Lewis SF Cook JD Myophosphorylase deficiency impairs muscle oxidative metabolism Ann Neurol 7 1985 196 199
89. Lewis SF Haller RG Fatigue in skeletal muscle disorders Atlan G Belivau L Bouissou P Muscle fatigue: Biochemical and Physiological Aspects 1991 Masson Paris, France 119 134
90. Tsujino S Rubin LA Shanske S An A-to-C substitution involving the translation initiation codon in myophosphorylase deficiency (McArdle's disease) Hum Mutat 4 1994 73 75
91. Tsujino S Shanske S Goto Y Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease Hum Mol Genet 3 1994 1005 1006
92. Tsujino S Shanske S Nonaka I Three novel mutations in patients with myophosphorylase deficiency (McArdle disease) Am J Hum Genet 54 1994 44 52
93. Wahren J Felig P Havel RJ Amino acid metabolism in McArdle's syndrome N Engl J Med 288 1973 774 777
94. Slonim AE Goans PJ McArdle's syndrome: Improvement with a high protein diet N Engl J Med 312 1985 355 359
95. Smit GPA Fernandes J Leonard JV The longterm outcome of patients with glycogen storage diseases J Inherited Metab Dis 13 1990 411 418
96. Fellows IW Lowe JS Ogilvie AL Type III glycogenosis presenting as liver disease in adults with atypical histological features J Clin Pathol 36 1983 431 434
97. Ozand P Tokatli M Amiri S Biochemical investigation of an unusual case of glycogenosis J Pediatr 71 1967 225 232
98. Murase T Ikeda H Muro T Myopathy associated with type III glycogenosis J Neurol Sci 20 1973 287 295
99. Badurska G Fidzianska A Kwiatkowska Z Muscular glycogenosis Type III in a 15-year-old boy Neuropathol Pol 8 1970 265 270
100. Slonim AE Weisberg C Benke P Reversal of debrancher deficiency myopathy by the use of high-protein nutrition Ann Neurol 11 1982 420 422
101. Moses SW Gadoth N Bashun N Neuromuscular involvement in glycogen storage disease type III Acta Paediatr Scand 75 1986 289 296
102. Brunberg JA McCormick WF Schochet SS Type III glycogenosis: An adult with diffuse weakness and muscle wasting Arch Neurol 25 1971 171 178
103. Miller CG Alleyne GA Brooks SEH Gross cardiac involvement in glycogen storage disease type III Br Heart J 34 1972 862 864
104. Moses SW Wanderman KL Myroz A Cardiac involvement in glycogen storage disease type III Eur J Pediatr 148 1989 764 766
105. Yang BZ Ding JH Brown BI Definitive prenatal diagnosis for type II glycogen storage disease Am J Hum Genet 47 1990 735 739
106. Sancho S Navarro C Fernández J Skin biopsy findings in glycogenosis III: Clinical, biochemical, and electrophysiological correlations Ann Neurol 27 1990 480 486
107. Miranda AF DiMauro S Antler A Glycogen debrancher deficiency is reproduced in muscle culture Ann Neurol 9 1981 283 288
108. Olson LJ Reeder GS Edwards WD Cardiac involvement in glycogen storage disease III: Morphologic and biochemical characterization with endomyocardial biopsy Am J Cardiol 53 1984 980 981
109. Powell HC Haas R Hall CL Peripheral nerve in type III glycogenosis: Selective involvement of unmyelinated fiber Schwann cells Muscle Nerve 8 1985 667 671
110. Ugawa Y Inoue K Takemura T Accumulation of glycogen in sural nerve axons in adult-onset type III glycogenosis Ann Neurol 19 1986 294 297
111. (abstr) Hug G Schubert WK Glycogenosis associated with degenerative disease of the brain: Biochemical and electron microscopic findings Clin Res 14 1966 441
112. Bates EJ Heaton GM Taylor C Debrancher enzyme from rabbit skeletal muscle: Evidence for the location of two active centers on a single polypeptide chain FEBS Lett 58 1975 181 185
113. Chen YT He JK Ding JH Glycogen debranching enzyme: Purification, antibody characterization, and immunoblot analysis of type III glycogen storage disease Am J Hum Genet 41 1987 1002 1015
114. Ding JH DeBarsy TH Brown BI Immunoblot analysis of glycogen debranching enzyme in different subtypes of glycogen storage disease type III J Pediatr 116 1990 95 100
115. Yang BZ Ding JH Enghild JJ Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme J Biol Chem 267 1992 9294 9299
116. Fernandes J The glycogen storage diseases Fernandes J Saudubray JM Tada K Inborn Metabolic Diseases 1990 Springer-Verlag Berlin, Germany 69 88
117. Rowland LP DiMauro S Layzer RB Phosphofructokinase deficiency Engel AG Banker BQ Myology 1986 McGraw-Hill New York, NY 1603 1617
118. Amit R Bashan N Abarbanel JM Fatal familial infantile glycogen storage disease: Multisystem phosphofructokinase deficiency Muscle Nerve 15 1992 455 458
119. Kahn A Etiemble J Meienhofer MC Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase Clin Chim Acta 61 1975 415 419
120. Etiemble J Kahn APB Hereditary hemolytic anemia with erythrocyte phosphofructokinase deficiency Hum Genet 31 1976 83 91
121. Danon MJ Carpenter S Manaligod JR Fatal infantile glycogen storage disease: Deficiency of phosphofructokinase and phosphorylase b kinase Neurology 31 1981 1303 1307
122. Bonilla E Schotland DL Histochemical diagnosis of muscle phosphofructokinase deficiency Arch Neurol 22 1970 8 12
123. Hays AP Hallett M Delfs J Muscle phosphofructokinase deficiency: Abnormal polysaccharide in a case of late-onset myopathy Neurology 31 1981 1077 1086
124. Vora S Isozymes of human phosphofructokinase: Biochemical and genetic aspects Isozymes Curr Top Biol Med Res 11 1983 3 23
125. Mineo I Kono N Hara N Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII N Engl J Med 317 1987 75 80
126. Vora S Miranda AF Hernandez E Regional assignment of the human gene for platelet-type phosphofructokinase (PFKP) to chromosome 10p: Novel use of polyspecific rodent antisera to localize human enzyme genes Hum Genet 63 1983 374 379
127. Nakajima H Noguchi T Yamasaki T Cloning of human muscle phosphofructokinase cDNA FEBS Lett 223 1987 113 116
128. Nakajima H Kono N Yamasaki T Tissue specificity in expression and alternative RNA splicing of human phosphofructokinase-M and L-genes Biochem Biophys Res Commun 173 1990 1317 1321
129. Sherman JB Raben N Nicastri C Common mutations in the phosphofructinose-M gene in Ashkenazi Jewish patients with glycogenosis VII-and their population frequency Am J Hum Genet 55 1994 305 313
130. Tsujino S Servidei S Tonin P Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency Am J Hum Genet 54 1994 812 819
131. DiMauro S Tsujino S Shanske S Biochemistry and molecular genetics of human glycogenoses: An overview Muscle and Nerve Suppl 3 1995 S10 S17
132. Valentine WM Hsieh H Paglia DE Hereditary hemolytic anemia associated with phosphoglycerate kinase deficiency in erythrocytes and leukocytes N Engl J Med 280 1960 528 534
133. Boivin P Hakim J Manderau J Deficit en 3-phosphoglycerate kinase erythrocytaire et leucocytaire Nouv Rev Fr Hematol 14 1974 495 508
134. Rosa R George C Fardeau M A new case of phosphoglycerate kinase deficiency: PGK Creteil associated with rhabdomyolysis and lacking hemolytic anemia Blood 60 1982 84 91
135. DiMauro S Dalakas M Miranda AF Phosphoglycerate kinase deficiency: Another cause of recurrent myoglobinuria Ann Neurol 13 1983 11 19
136. Tonin P Shanske S Miranda AF Phosphoglycerate kinase deficiency: Biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta) Neurology 43 1993 387 391
137. Tsujino S Shanske S DiMauro S Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency Muscle and Nerve Suppl 3 1995 S45 S49
138. Huang IY Rubinfien E Yoshida A Complete aminoacid sequence of human phosphoglycerate kinase: Isolation and aminoacid sequence of tryptic peptides J Biol Chem 255 1980 6408 6411
139. Huang IY Welch CD Yoshida A Complete aminoacid sequence of human phosphoglycerate kinase: Cyanogen bromide peptides and complete amino acid sequence J Biol Chem 255 1980 6412 6420
140. Sugie H Sugie Y Nishida M Recurrent myoglobinuria in a child with mental retardation: Phosphoglycerate kinase deficiency J Child Neurol 4 1989 95 99
141. Fujii H Kanno H Hirono A A single amino acid substitution (157 Glyto Val) in a phosphoglycerate kinase variant (PGK Shizuoka) associated with chronic hemolysis and myoglobinuria Blood 79 1992 1582 1585
142. Tsujino S Tonin P Shanske S A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina) Ann Neurol 35 1994 349 353
143. Sugie H Sugie Y Tsurui S Phosphoglycerate kinase deficiency [correspondence] Neurology 44 1996 1364 1365
144. Michelson AM Markham AF Orkin SH Isolation and DNA sequence of a full-length cDNA clone for human X chromosome encoded phosphoglycerate kinase Proc Natl Acad Sci USA 80 1983 472 476
145. Zellweger H Mueller S Ionasescu V Glycogenosis: IV. A new cause of infantile hypotonia J Pediatr 80 1972 842 844
146. Ferrans VJ Hibbs RG Walsh JJ Cardiomyopathy, cirrhosis of the liver and deposits of a fibrillar polysacharide Am J Cardiol 17 1966 457 469
147. Servidei S Riepe RE Langston C Severe cardiopathy in branching enzyme deficiency J Pediatr 111 1987 51 56
148. Brown BI Brown DH Branching enzyme activity of cultured amniocytes and chorionic villi: Prenatal testing for type IV glycogen storage disease Am J Hum Genet 44 1989 378 381
149. Selby R Starzl TE Yunis E Liver transplantation for type IV glycogen storage disease N Engl J Med 324 1991 39 42
150. Sokal EM Van Hoof F Alberti D Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis Eur J Pediatr 151 1992 200 203
151. Stanley CA Dissecting the spectrum of fatty acid oxidation disorders J Pediatr 132 1998 384 386
152. DiMauro S DiMauro PMM Muscle carnitine palmitoyl transferase deficiency and myoglobinuria Science 182 1973 929 931
153. Stanley CA Hale DE Coates PM Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels Pediatr Res 17 1983 877 884
154. Howat AJ Bennett MJ Variend S Defects of metabolism of fatty acids in the sudden infant death syndrome Br Med J 290 1985 1771 1773
155. Duran M Hofkamp M Rhead WJ Sudden child death and ‘healthy’ affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency Pediatrics 78 1986 1052 1057
156. Taubman B Hale DE Kelley RI Familial Reye-like syndrome: A presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency Pediatrics 79 1987 382 385
157. Gibson EM Breuer J Nyhan WL 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Review of 18 reported patients Eur J Pediatr 148 1988 180 186
158. Demaugre F Bonnefont J-P Mitchell G Hepatic and muscular presentations of crnitine palmitoyl transferase deficiency: Two distinct entities Pediatr Res 24 1988 308 311
159. Frerman FE Goodman SI Glutaric aciduria type II and defects of the mitochondrial respiratory chain Scriver CR Beaudet AL Sly WS The Metabolic Basis of Inherited Disease 1989 McGraw-Hill New York, NY 915 931
160. Wanders RJA Duran M Ijlst L Sudden infant death and long-chain 3-hydroxyacyl-CoA dehydrogenase Lancet 2 1989 52 53
161. Hale DE Thorpe C Short-chain 3-OH Acyl-CoA dehydrogenase deficiency Pediatr Res 24 1989 199A
162. Fatty Acid Oxidation: Clinical Biochemical and Molecular Aspects Stanley CA Hale DE Coates PM Medium-chain acyl-CoA dehydrogenase deficiency Tanaka K Coates PM Progress in Clinical and Biological Research 1990 Alan R. Liss New York, NY 291 302
163. Tein I De Vivo DC Bierman F Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy Pediatr Res 28 1990 247 255
164. Stanley CA New genetic defects in mitochondrial fatty acid oxidation and carnitine deficiency Adv Pediatr 34 1987 59 88
165. Cahill GF Jr Starvation in man N Engl J Med 282 1970 668 675
166. Hale DE Bennett MJ Fatty acid oxidation disorders: A new class of metabolic diseases J Pediatr 121 1992 1 11
167. Pildes RS Patel DA Nitzan M Glucose disappearance rate in symptomatic neonatal hypoglycemia Pediatrics 52 1973 75 82
168. Bier DM Leake RD Haymond MW Measurement of “true” glucose production rates in infancy and childhood with 6,6-dideuteroglucose Diabetes 26 1977 1016 1023
169. Aynsley-Green A Hypoglycemia in infants and children Clin Endocrinol Metab 11 1982 159 194
170. Pagliara AS Karl IE Haymond M Hypoglycemia in infancy and childhood Par I J Pediatr 82 1973 365 379
171. Johnson RE Possmore R Sargent F Multiple factors in experimental human ketosis Arch Intern Med 107 1961 43 50
172. Bell AW Thompson GE Free fatty acid oxidation in bovine muscle in vivo: Effects of cold exposure and feeding Am J Physiol 237 1979 E309 E315
173. Tonsgard JH Getz GS Effect of Reye's syndrome serum on isolated chinchilla liver mitochondria J Clin Invest 76 1985 816 825
174. Tonsgard JH Serum dicarboxylic acids in patients with Reye syndrome J Pediatr 109 1986 440 445
175. Corkey BE Hale DE Glennon MC Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome J Clin Invest 82 1988 782 788
176. Mak IT Kramer JH Weglicki WB Proentiation of free radical-induced lipid peroxidative injury to sarcolemmal membranes by lipid amphiphiles J Biol Chem 26 1986 1153 1157
177. Inoue D Pappano AJ L-palmitoylcarnitine and calcium ions act similarly on excitatory ionic currents in avian ventricular muscle Circ Research 52 1983 625 634
178. Spedding M Activators and inactivators of Ca++ channels: New perspectives J Pharmacol 16 1985 319 343
179. Spedding M Mir AK Direct activation of Ca++ channels by palmitoyl carnitine, a putative endogenous ligand Br J Pharmacol 92 1987 457 468
180. Lee HC Smith N Mohabir R Cytosolic calcium transients from the beating mammalian heart Proc Natl Acad Sci USA 84 1987 7793 7797
181. Bremer J Carnitine-metabolism and functions Physiol Rev 63 1983 1420 1480
182. Stanley CA Deleeuw S Coates PM Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake Ann Neurol 30 1991 709 716
183. Tein I DiMauro S De Vivo DC Recurrent childhood myoglobinuria Adv Pediatr 37 1990 77 117
184. Knochel JP Renal injury in muscel disease Suki WN Eknoyan G The Kidney in Systemic Disease 1976 John Wiley and Sons New York, NY 129 140
185. Tein I Fatty acid oxidation and associated defects Proceedings of the American Academy of Neurology, Seattle, WA 1995 Ominpress Madison, WI 9 38
186. Elpeleg ON Joseph A Branski D Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency J Pediatr 122 1993 917 919
187. (abstr) Poll-The BT Duran M Mousson B Carnitine palmitoyl transferase I deficiency: Is there a diagnostic dicarboxylic aciduria? Proceedings of the 30th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism Leuven, Belgium Sept. 8–11, 1992 128
188. Falik-Borentein ZC Jordan SC Saudubray J-M Brief report: Renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency N Engl J Med 327 1992 24 27
189. Tripp ME Katcher ML Peters HA Systemic carnitine deficiency presenting as familial endocardial fibroelastosis. A treatable cardiomyopathy N Engl J Med 305 1981 385 390
190. DiMauro S Papadimitriou A Carnitine palmitoyltransferase deficiency Engel AG Banker BQ Myology 1986 McGraw-Hill New York, NY 1697 1708
191. Morris AAM Olpin SE Brivet M A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype J Pediatr 132 1998 514 516
192. New Developments in Fatty Acid Oxidation Hashimoto T Peroxisomal and mitochondrial enzymes Coates PM Tanaka K Progress in Clinical and Biological Research vol 375 1992 Wileyliss New York, NY 19 32
193. Sims HF Brackett JC Powell CK The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy Proc Natl Acad Sci USA 92 1995 841 845
194. Yamaguchi S Indo Y Coates PM Identificaion of very long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency Pediatr Res 34 1993 111 113
195. Aoyama T Souri M Ushikubo T Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients J Clin Invest 95 1995 2465 2473
196. Hale DE Stanley CA Coates PM The long-chain acyl-CoA dehydrogenase deficiency Tanaka K Coates PM Progress in Clinical and Biological Research vol 321 1990 Alan R. Liss New York, NY 303 311 Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects
197. Dionisi-Vici C Burlina AB Bertini E Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency J Pediatr 118 1991 744 746
198. Tein I Donner EJ Hale DE Clinical and neurophysiologic response of myopathy and neuropathy in long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency to oral prednisone Pediatr Neurol 12 1995 68 76
199. Ruitenbeek W Poels PJE Turnbull DM Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency to oral prednisone J Neurol Neurosurg Psych 58 1995 209 214
200. Glasgow AM Engel AG Bier DM Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium-chain triglyceride diet Pediatr Res 17 1983 319 326
201. Strauss AW Powell CK Hale DE Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood Proc Natl Acad Sci USA 92 1995 10496 10500
202. Hagenfeldt L von Döbein U Holme E 3-Hydroxydicarboxylic aciduria—A fatty acid oxidation defect with severe prognosis J Pediatr 116 1990 387 392
203. Kerner J Bieber LL A radioisotopic exchange method for quantitation of short-chain (acid-soluble) acylcarnitines Anal Biochem 134 1983 459 466
204. Millington DS Terada N Chace DH The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders Tanaka K Coates PM Progress in Clinical and Biological Research 1992 Wiley-Liss New York, NY 339 354 New Developments in Fatty Acid Oxidation
205. Millington DS New methods for the analysis of acylcarnitines and acyl-coenzyme A compounds Gaskell SJ Mass Spectrometry in Biomedical Research 1986 John Wiley & Sons New York, NY 97 114
206. Nada MA Chace DH Sprecher H Investigation of β-oxidation intermediates in normal and MCAD deficient human fibroblass, using tandem mass spectometry Biochem Med Met Biol 54 1995 59 66
207. Nada MA Rhead WJ Sprecher H Evidence for intermediate channeling in mitochondrial β-oxidation J Biol Chem 20 1995 530 535
208. Nada MA Vianey-Saban C Roe CR Prenatal diagnosis of mitochondrial fatty acid oxidation defects Prenat Diagn 16 1996 117 124
209. 10-dicarboxylic aciduria: Biochemical considerations in relation to diagnosis of β-oxidation defects. Scand J Clin Lab Invest 42 1982 15 27
210. Mortensen PB Gregersen N The biological origin of ketotic dicarboxylic aciduria. II. In vivo and in vitro investigations of the β-oxidation of C8-C16-dicarboxylic acids in unstarved, starved and diabetic rats Biochim Biophys Acta 710 1982 477 484
211. Mortensen PB Inhibition of fatty acid oxidation by valproate Lancet 2 1981 856 857
212. Pollitt RJ Clinical and biochemical presentations in twenty cases of hydroxydicarboxylic aciduria Tanaka K Coates PM Progress in Clinical and Biological Research vol 321 1990 Alan R Liss New York, NY 495 502 Fatty Acid Oxidation: Clinical Biochemical, and Molecular Aspects
213. Gregersen N Kølvraa S Mortensen PB Acyl-CoA: glycine N-acyltransferase: In vitro studies on the glycine conjugation of straight- and branched-chained acyl-CoA esters in human liver Biochem Med Metab Biol 35 1986 210 218
214. Rinaldo P O'Shea JJ Coates PM Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine N Engl J Med 319 1988 1308 1313
215. Rhead WJ Screening for inborn errors of fatty acid oxidation in cultured fibroblasts: An overview Tanaka K Coates PM Progress in Clinical and Biological research vol 321 1990 Alan R. Liss New York, NY 365 382 Fatty Acid Oxidation: Clinical. Biochemical and Molecular Aspects
216. Esser V Britton CH Weis BC Cloning, sequencing, and expression of a cDNA encoding rat liver carnitine palmitoyltransferase I J Biol Chem 268 1993 5817 5822
217. Britton CH Schultz RA Zhang B Human liver mitochondrial carnitine palmitoyltransferase I: Characterization of its cDNA and chromosomal localization and partial analysis of the gene Proc Natl Acad Sci USA 92 1995 1984 1988
218. Yamazaki N Shinohara Y Shima A Isolation and characterization of cDNA and genomic clones encoding human muscle type carnitine palmitoyltransferase I Biochim Biophys Acta 1307 1996 157 161
219. Indiveri C Tonazzi A Palmieri F Identification and purification of the carnitine carrier from rat liver mitochondria Biochim Biophys Acta 1020 1990 81 86
220. Indiveri C Tonazzi A Prezioso G Kinetic characterization of the reconstituted carnitine carrier from rat liver mitochondria Biochim Biophys Acta 1065 1991 231 238
221. Palmieri F Bisaccia F Capobianco L Mitochondrial metabolite transporters Biochim Biophys Acta 1275 1996 127 132
222. Woeltje KF Esser V Weist BC Cloning, sequencing, and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase II J Biol Chem 265 1990 10720 10725
223. Finochiaro G Taroni F Rocchi M cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase Proc Natl Acad Sci USA 88 1991 661 665
224. Taroni F Verderio E Dworzak F Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients Nature Genet 4 1993 314 320
225. Gellera C Verderio E Floridia G Assignment of the human carnitine palmitoyltransferase II gene (CPT II) to chromosome 1p32 Genomics 24 1994 195 197
226. Verderio E Cavadini P Montermini L Carnitine palmitoyltransferase II deficiency: Structure of the gene and characterization of two novel disease-causing mutations Hum Molec Genet 4 1995 19 29
227. Kelley RI Beta-oxidation of long-chain fatty acids by human fibroblasts: Evidence for a novel long-chain acyl-coenzyme a dehydrogenase Biochem Biophy Res Commun 182 1992 1002 1007
228. Izai K Uchida Y Orii T Novel fatty acid β-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very long-chain acyl-coenzyme A dehydrogenase J Biol Chem 267 1992 1027 1033
229. Aoyama T Souri M Ueno I Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients Am J Hum Genet 57 1995 273 283
230. Andresen BS Bross P Vianey-Saban C Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase. cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene Hum Molec Genet 5 1996 461 472
231. Andresen BS Vianey-Saban C Bross P The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency J Inherited Metab Dis 19 1996 169 172
232. Matsubara Y Indo Y Naito E Molecular cloning and nucleotide sequence of cDNAs encoding the precursors of rat long chain acyl coenzyme A short chain acyl coenzyme A and isovaleryl-coenzyme A dehydrogenases: Sequence homology of four enzymes of the Acyl-CoA Dehydrogenase Family J Biol Chem 264 1989 16321 16331
233. Indo Y Tang-Feng T Glassberg R Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2 Genomics 11 1991 609 620
234. Carpenter K Pollitt RJ Middleton B Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of mitochondria Biochem Biophys Res Commun 183 1992 443 448
235. Luo MJ He X-Y Sprecher H Purification and characterization of the trifunctional β-oxidation complex from pig heart mitochondria Arch Biochem Biophys 304 1993 266 271
236. Uchida Y Izai K Orii T Novel fatty acid β-oxidation enzymes in rat liver mitochondria. II. Purification and properties, of enoyl-coenzyme A (CoA) hydratase 3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein J Biol Chem 267 1992 1034 1041
237. Kamijo T Aoyama T Miyazaki J Molecular cloning of the cDNAs for the subunits of rat mitochondrial fatty acid β-oxidation multienzyme complex J Biol Chem 268 1993 26452 26460
238. Kamijo T Wanders RJA Saudubray J-M Mitochondrial trifunctional protein deficiency J Clin Invest 93 1994 1740 1747
239. abstr Strauss AW Genotype-phenotype correlations in mitochondrial trifunctional protein deficiency Proceedings 7th International Congress of Inborn Errors of Metabolism Vienna, Austria May 21–25, 1997 07 16
240. Kelly DP Kim JJ Billadello JJ Nucleotide sequence of MCAD mRNA Proc Natl Acad Sci USA 84 1987 4068 4072
241. Strauss AW Duran M Zhang Z Molecular analysis of medium chain acyl-CoA dehydrogenase deficiency Tanaka K Coates PM Progress in Clinical and Biological Research Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects 1990 Alan R. Liss New York, NY 609 623
242. Gregersen N Andresen BS Bross P Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency J Inherited Metab Dis 14 1991 314 316
243. Blakemore AIF Singleton H Pollitt RJ Frequency of the G985 MCAD mutation in the general population Lancet 337 1991 298 299
244. Finocchiaro G Ito M Tanaka K Purification and properties of short chain acyl-CoA, medium chain acyl-CoA, and isovaleryl-CoA dehydrogenases from human liver J Biol Chem 262 1987 7982 7989
245. Naito E Ozasa H Ikeda Y Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme a dehydrogenase deficiency J Clin Invest 83 1989 1605 1613
246. Corydon MJ Gregersen N Lehnert W Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase Pediatr Res 39 1996 1059 1066
247. abstr Gregerson N Winter VS Corydon MJ Characterization of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients with SCAD deficiency J Inherited Metab Dis 19 suppl 1 1996 58
248. Vredendaal PCJM van den Berg IET Malingre HEM Human short-chain L-3-hydroxyacyl-CoA dehydrogenase: Cloning and characterization of the coding sequence Biochem Biophys Res Commun 223 1996 718 723
249. Finocchiaro G Ito M Ikeda Y Molecular cloning and nucleotide sequence of cDNAs encoding the α-subunit of human electron transfer flavoprotein J Biol Chem 265 1988 15773 15780
250. Finocchiaro G Colombo I Garavaglia B cDNA cloning and mitochondrial import of the beta subunit of the human electron-transfer flavoprotein Eur J Biochem 213 1993 1003 1008
251. Goodman SI Bemelen KF Frerman FE Human cDNA encoding ETF dehydrogenase (ETF; ubiquinone oxidoreductase), and mutations in glutaric acidemia type II Tanaka K Coates PM Progress in Clinical and Biological Research vol 375 1992 Wiley-Liss New York, NY 567 572 New Developments in Fatty Acid Oxidation
252. Mitchell GA Robert M-F Hruz PW 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency J Biol Chem 25 1993 4376 4381
253. Roberts JR Narasimhan C Hruz PW 3-hydroxy-3-methylglutaryl-CoA lyase: Expression and isolation of the recombinant human enzyme and investigation of a mechanism for regulation of enzyme activity J Biol Chem 269 1994 17841 17846
254. Pande SV Brivet M Slama A Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculoventricular block J Clin Invest 91 1993 1247 1252
255. Finocchiaro G Ikeda Y Ito M Biosynthesis, molecular cloning and sequencing of electron transfer flavoprotein Tanaka K Coates PM Progress in Clinical and Biological Research vol 321 1990 Alan R. Liss New York, NY 637 652 Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects
256. Souri M Aoyama T Orii K Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: Identification and characterization of mutant VLCAD cDNAs from four patients Am J Hum Genet 58 1996 97 106
257. Naito E Indo Y Tanaka K Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency J Clin Invest 85 1990 1575 1582
258. 10-dicarboxylic aciduria: Investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects Pediatr Res 16 1982 861 868
259. Bennett MJ Worthy E Pollitt RJ The incidence and presentation of dicarboxylic aciduria J Inherited Metab Dis 10 1987 241 242
260. Wu Z Prasad PD Leibach FH cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family Biochem Biophys Res Commun 246 1998 589 595
261. Tamai I Ohashi R Nezu J Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2 J Biol Chem 273 1998 20378 20382
262. Lamhonwah AM Tein I Carnitine uptake defect: Frameshift mutations in the human plasmalemmal carnitine transporter gene Biochem Biophys Res Commun 252 1998 396 401